Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome
ACTION
1 other identifier
interventional
200
0 countries
N/A
Brief Summary
Characterization of the genetic causes, and of the immunopathological clinical and biological manifestations in children with pediatric Evans syndrome included in a prospective national observational cohort of rare diseases.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started May 2019
Typical duration for not_applicable
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 9, 2019
CompletedFirst Posted
Study publicly available on registry
April 11, 2019
CompletedStudy Start
First participant enrolled
May 6, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 6, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
May 6, 2022
CompletedApril 11, 2019
April 1, 2019
3 years
April 9, 2019
April 9, 2019
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Number of patients for whom a causal mutation has been identified (known or new)
after the genetic analyzes carried out on all the participants included, may 2022
The number of biological samples collected for PSE children included in the OBS'CEREVANCE cohort and their relatives will be recorded
every 3 months, between may 2019 and may 2022
Secondary Outcomes (4)
Immunopathological clinical manifestations
after the genetic analyzes carried out on all the participants included, may 2022
Abnormalities of lymphocyte immunophenotyping
after the genetic analyzes carried out on all the participants included, may 2022
The correlation between causal mutations identified with the clinical and immunological phenotype
after the genetic analyzes carried out on all the participants included, may 2022
Physiopathological and potentially therapeutic classification of pES-T
after the genetic analyzes carried out on all the participants included, may 2022
Study Arms (1)
pediatric Evans Syndrome
OTHERCollection of biological samples of children with pSE included in the the OBS'CEREVANCE cohort and their parents, for genetic and functional immunological analyzes.
Interventions
A first systematic approach by Targeted-Next Generation Sequencing will be used on the entire cohort of patients with pSE. This step will be performed on a sequencing chip specifically developed to detect anomalies in known genes involved in autoimmunity. In patients for whom no mutations are identified, a whole exome sequencing (WES) approach will be applied to patients and their parents to seek to identify mutations in new genes that may be related to pSE. In patients for whom this WES approach is unsuccessful, the search for somatic lymphocyte mutations, or copy number variants will be performed before considering a complete genome sequencing . If several candidate genes are identified, the clinical data provided by the CEREVANCE and the phenotypic analyses carried out prior to genetic analyses by the CEDI laboratory will guide the choices to prioritize the study of the identified variants.
Eligibility Criteria
You may qualify if:
- Patient registered in the French national prospective OBS'CEREVANCE cohort
- Diagnosis of pediatric Evans syndrome (PTI+AHAI)
- Age strictly under 18 years at the initial onset
- Child residing in metropolitan France and affiliated to a french health insurance system
- Free, informed, written and signed consent
You may not qualify if:
- Evans syndrome secondary to chemotherapy, bone marrow transplantation or organ transplantation.
- Refusal to participate from parents/patients
Contact the study team to confirm eligibility.
Sponsors & Collaborators
MeSH Terms
Conditions
Interventions
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 9, 2019
First Posted
April 11, 2019
Study Start
May 6, 2019
Primary Completion
May 6, 2022
Study Completion
May 6, 2022
Last Updated
April 11, 2019
Record last verified: 2019-04